ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) rs139590686 0.00008
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter) rs201889294 0.00004
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061 0.00003
NM_130837.3(OPA1):c.33-8T>C rs370303596 0.00003
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_003849.4(SUCLG1):c.113T>C (p.Ile38Thr) rs1672909095 0.00002
NM_018238.4(AGK):c.672C>A (p.Tyr224Ter) rs771945804 0.00002
NM_006796.3(AFG3L2):c.202C>T (p.Arg68Ter) rs543422544 0.00001
NM_018238.4(AGK):c.409C>T (p.Arg137Ter) rs746709222 0.00001
NM_001080449.3(DNA2):c.64_74+1del rs556723627
NM_001278716.2(FBXL4):c.1241T>C (p.Leu414Pro)
NM_001278716.2(FBXL4):c.1544G>A (p.Cys515Tyr)
NM_001278716.2(FBXL4):c.486T>A (p.Tyr162Ter) rs1562245046
NM_001953.5(TYMP):c.1109A>T (p.Gln370Leu) rs1276418601
NM_001953.5(TYMP):c.1444C>T (p.Gln482Ter)
NM_001953.5(TYMP):c.695T>C (p.Val232Ala) rs1294823677
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp) rs1064792872
NM_002693.3(POLG):c.3328C>T (p.His1110Tyr) rs2152058760
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg) rs796052913
NM_002693.3(POLG):c.3538_3539dup (p.Ala1182fs)
NM_002693.3(POLG):c.3637C>T (p.Pro1213Ser) rs2055307106
NM_002693.3(POLG):c.419G>T (p.Arg140Leu)
NM_004614.5(TK2):c.129_132del (p.Lys43fs) rs281865500
NM_004614.5(TK2):c.372_373delinsCT (p.Gln125Ter) rs886039669
NM_013975.4(LIG3):c.2653_2654del (p.Leu884_Ser885insTer) rs2142286963
NM_015713.5(RRM2B):c.48+188del rs758091261

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